Full data view for gene PALB2

Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_024675.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/-? - c.2794G>A r.(?) p.(Val932Met) - Parent #1 - VUS g.23635370C>T g.23624049C>T - - PALB2_010125 PolyPhen-2: PSIC: 0,86- possibly damaging; SIFT: deleterious - ClinVar-126682 rs45624036 Germline - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - Germany - - 0 - - 1 Andreas Laner
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Rahman 2007 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Garcia 2009 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Bogdanova2011 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Ding2011 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Erkko2007 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Hofstatter2011 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Kuusisto2011 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Prokofyeva2012 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Tischkowitz2012 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Wong2011 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA ? - - PNCA-3, cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Parent #1 - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Aoude 2014 ClinVar-126682 rs45624036 Unknown - 2/201 CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA SEQ - - CMM-10 - - - ? - Australia - - 0 - - 2 Marc Tischkowitz
-?/- 8 c.2794G>A r.(?) p.(Val932Met) - Parent #1 - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Kanchi 2014 ClinVar-126682 rs45624036 Unknown - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA SEQ - - cancer, breast, familial - - - F - United States - - 0 - - 4 Marc Tischkowitz
-/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - benign g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Catucci 2014 ClinVar-126682 rs45624036 Germline - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 12 Marc Tischkowitz
?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - VUS g.23635370C>T g.23624049C>T - - PALB2_010125 - PubMed: Zhen 2015 ClinVar-126682 rs45624036 Unknown - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA SEQ - - PNCA-3 - PubMed: Zhen 2015 - ? - United States - - 0 - - 4 Marc Tischkowitz
?/- 8 c.2794G>A r.(?) p.(Val932Met) - Unknown - VUS g.23635370C>T g.23624049C>T c.G2794A - PALB2_010125 - PubMed: Grant 2015 ClinVar-126682 rs45624036 Unknown - - CviAII+, FatI+, NlaIII+, BssSI- 0 - DNA SEQ - - PNCA-3 - PubMed: Grant 2015 - ? - Canada - - 0 - - 1 Marc Tischkowitz
./. - c.2794G>A r.(?) p.(Val932Met) - Parent #1 - benign g.23635370C>T g.23624049C>T - - PALB2_010125 - Thibodeau lab (Mayo Clinic) ClinVar-126682 rs45624036 Germline - - - 0 - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2794G>A r.(?) p.(Val932Met) - Parent #1 - benign g.23635370C>T g.23624049C>T - - PALB2_010125 - Thibodeau lab (Mayo Clinic) ClinVar-126682 rs45624036 Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 14 Melissa DeRycke
-?/. - c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T PALB2(NM_024675.3):c.2794G>A (p.(Val932Met), p.V932M) - PALB2_010125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2794G>A r.(?) p.(Val932Met) - Unknown - benign g.23635370C>T g.23624049C>T PALB2(NM_024675.3):c.2794G>A (p.(Val932Met), p.V932M) - PALB2_010125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T PALB2(NM_024675.3):c.2794G>A (p.(Val932Met), p.V932M) - PALB2_010125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T PALB2(NM_024675.3):c.2794G>A (p.(Val932Met), p.V932M) - PALB2_010125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2794G>A r.(?) p.(Val932Met) - Unknown - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 - - - - Germline - - - 0 - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - 0 - - 1 Carlos Vaccaro
-/. - c.2794G>A r.(?) p.(Val932Met) - Unknown - benign g.23635370C>T g.23624049C>T PALB2(NM_024675.3):c.2794G>A (p.(Val932Met), p.V932M) - PALB2_010125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2794G>A r.(?) p.(Val932Met) - Parent #1 - likely benign g.23635370C>T g.23624049C>T - - PALB2_010125 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs45624036 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
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